Abstract |
The most common of the primary immunodeficiency diseases are those that involve inadequate antibody production. The characteristic presentation of these disorders is recurrent sinopulmonary infections. An arrest in B cell development at the pre-B cell stage leads to agammaglobulinemia and an insignificant number of B cells. X-linked agammaglobulinemia is the most common of these developmental arrests while the autosomal recessive agammaglobulinemias comprise a small minority of the total cases. Likewise, the most common form of the hyper-IgM syndromes ( CD40 ligand deficiency) is X-linked. Of the autosomal recessive forms, CD40 deficiency is basically identical to the X-linked form in its clinical phenotype where, in addition to inadequate antibody production, there is defective T cell signaling through the CD40-CD40L interaction. Aside from CD40 deficiency, the other recessive forms of hyper-IgM syndrome have adequate T cell function. IgA deficiency is the most common and the most benign of the B cell disorders. Common variable immunodeficiency is diverse in its presentation and clinical course. The pathophysiology of this disease is multifactorial and frequently ill defined, often making it a diagnosis of exclusion. A working knowledge of identifiable PIDDs is essential in both recognizing when to suspect immunodeficiency and making a diagnosis.
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Authors | John D Vickery, Christie F Michael, D Betty Lew |
Journal | Cardiovascular & hematological disorders drug targets
(Cardiovasc Hematol Disord Drug Targets)
Vol. 13
Issue 2
Pg. 133-43
(Aug 2013)
ISSN: 2212-4063 [Electronic] United Arab Emirates |
PMID | 23988001
(Publication Type: Journal Article, Review)
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Topics |
- Agammaglobulinemia
(immunology, pathology)
- B-Lymphocytes
(cytology, immunology, pathology)
- Common Variable Immunodeficiency
(immunology, pathology)
- Humans
- Immunologic Deficiency Syndromes
(immunology, pathology)
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